A decade ago only those with a family history of disease would consider having their DNA tested for disease risk. But who can avoid considering it today? In many countries there is constant pitching from commercial companies offering tests “that determine an individual’s likelihood of disease” or provide “a complete picture of your risk involving 50 or more than 400 genes that can cause cancer” (to quote publicity from one company).
Are we ready for this? Last month Science magazine ran an excellent article by Jennifer Couzin-Frankel, describing her entry into the brave new world of genetic testing as she attempted to find her risk of breast and ovarian cancer – given recent research indicating that those of Ashkenazi Jewish descent were at increased risk even without family history.
She discovered a miasma of uncertainty as a growing number of mutations, many of as yet unknown relevance (unlike BRCA mutations) are discovered and tested for. Clinicians talked of their worries that genetic sequencing technology has advanced so quickly that it is well ahead of treatment plans to act on it, leaving doctors with no answers to the important questions patients ask as a result of findings.
At the end of her testing, because of the knowledge she has gathered as a health journalist, Jennifer Couzin-Frankel could make an informed interpretation. She decided that, on current knowledge, a deletion of 15 DNA nucleotides on her CHEK2 gene did “not merit my mental energy”.
Waiting for the biggest traffic jam in history
But can everyone to make such balanced judgements? Making sense of DNA sequencing for the public is going to be a challenge for the cancer community. And as John Burn, Professor of Clinical Genetics at Newcastle University, said at a recent British Medical Journal conference: “You ain’t seen nothing yet.” He pointed to the immense gains to be made from DNA sequencing, but expressed his anxiety that the “biggest traffic jam in history” was about to hit health services: “We are going to be inundated with millions of variants and we are going to have to make sense of them.”
Journalists and other communicators are going to play a part in helping the public interpret the deluge of information. But it’s difficult enough guiding people through relative risk even when the risk factors are well defined. Can journalists really equip large numbers act wisely on results of gene tests where the implications are not even clear to clinicians?
Making information useful
If the genetic information is to be genuinely to be useful, rather than simply a source of anxiety and unnecessary interventions, people will need detailed, personalised and time-consuming discussions. How likely is this to happen?
Even if the gene-testing organisations provide genetic counselling, it will inevitably fall to health services to help people through most difficult decisions. Unfortunately, the fact is that lack of time with patients is the most consistent source of frustration among physicians, surgeons, nurses, psychologists and every other profession involved in cancer, (at least, that’s the impression I’ve gained over many years of interviewing them). The need to see the next patient or lack of support infrastructure consistently gets in the way of nuanced discussions about the implications of tests, treatment options and patient worries.
Finding ways to create time and human resources for support and decision-making is already one of the biggest priorities for many cancer services around the world. How much more pressing – and inevitably problematic – is it going to become as genetic testing creates more and more patients, and with increasingly complex decisions to make?